Hereditary transthyretin amyloidosis overview

por Manganelli, Fiore, Fabrizi, Gian Maria, Luigetti, Marco, Mandich, Paola, Mazzeo, Anna, Pareyson, Davide
Publicado 2020

Theory of Mind Is Impaired in Mild to Moderate Huntington’s Disease Independently from Global Cognitive Functioning

por Lagravinese, Giovanna, Avanzino, Laura, Raffo De Ferrari, Alessia, Marchese, Roberta, Serrati, Carlo, Mandich, Paola, Abbruzzese, Giovanni, Pelosin, Elisa
Publicado 2017

1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

por Mandich, Paola, Lamp, Merit, Gotta, Fabio, Gulli, Rossella, Iacometti, Ariela, Marchese, Roberta, Bellone, Emilia, Abbruzzese, Giovanni, Ferrandes, Giovanna
Publicado 2017

People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey

por Prada, Valeria, Hamedani, Merhnaz, Genovese, Filippo, Zuppa, Angela, Benedetti, Luana, Bellone, Emilia, Grandis, Marina, Mandich, Paola, Schenone, Angelo
Publicado 2020

A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era

por Ruscitti, Federica, Origone, Paola, Rosti, Giulia, Trevisan, Lucia, Marchese, Roberta, Brugnolo, Andrea, Massa, Federico, Castellini, Paola, Mandich, Paola
Publicado 2022

Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017

por Prada, Valeria, Massucco, Sara, Venturi, Consuelo, Geroldi, Alessandro, Bellone, Emilia, Mandich, Paola, Minuto, Michele, Varaldo, Emanuela, Mancardi, Giovanni, Grandis, Marina, Schenone, Angelo
Publicado 2019

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

por Ruscitti, Federica, Trevisan, Lucia, Rosti, Giulia, Gotta, Fabio, Cianflone, Annalia, Geroldi, Alessandro, Origone, Paola, Pichiecchio, Anna, Viglio, Simona, Iascone, Maria, Mandich, Paola
Publicado 2021

Case report: Episodic ataxia without ataxia?

por Gaudio, Andrea, Gotta, Fabio, Ponti, Clarissa, Sanguineri, Francesca, Trevisan, Lucia, Geroldi, Alessandro, Patrone, Serena, Gemelli, Chiara, Cabona, Corrado, Astrea, Guja, Fiorillo, Chiara, Gustincich, Stefano, Grandis, Marina, Mandich, Paola
Publicado 2023

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

por Esposito, Pasquale, Caputo, Carmela, Repetto, Monica, Somaschini, Alberto, Pietro, Bellone, Colomba, Paolo, Zizzo, Carmela, Parodi, Angelica, Zanetti, Valentina, Canepa, Marco, Eustachi, Virginia, Sanguineri, Francesca, Mandich, Paola, Viazzi, Francesca
Publicado 2023

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

por Origone, Paola, Gotta, Fabio, Lamp, Merit, Trevisan, Lucia, Geroldi, Alessandro, Massucco, Davide, Grazzini, Matteo, Massa, Federico, Ticconi, Flavia, Bauckneht, Matteo, Marchese, Roberta, Abbruzzese, Giovanni, Bellone, Emilia, Mandich, Paola
Publicado 2018

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

por Grandis, Marina, Geroldi, Alessandro, Gulli, Rossella, Manganelli, Fiore, Gotta, Fabio, Lamp, Merit, Origone, Paola, Trevisan, Lucia, Gemelli, Chiara, Fabbri, Sabrina, Schenone, Angelo, Tozza, Stefano, Santoro, Lucio, Bellone, Emilia, Mandich, Paola
Publicado 2018

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

por Capponi, Simona, Geuens, Thomas, Geroldi, Alessandro, Origone, Paola, Verdiani, Simonetta, Cichero, Elena, Adriaenssens, Elias, De Winter, Vicky, Bandettini di Poggio, Monica, Barberis, Marco, Chiò, Adriano, Fossa, Paola, Mandich, Paola, Bellone, Emilia, Timmerman, Vincent
Publicado 2016

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

por Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Publicado 2019

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

por Gemelli, Chiara, Traverso, Monica, Trevisan, Lucia, Fabbri, Sabrina, Scarsi, Elena, Carlini, Barbara, Prada, Valeria, Mongini, Tiziana, Ruggiero, Lucia, Patrone, Serena, Gallone, Salvatore, Iodice, Rosa, Pisciotta, Livia, Zara, Federico, Origone, Paola, Rota, Eugenia, Minetti, Carlo, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Fiorillo, Chiara, Grandis, Marina
Publicado 2021

Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years

por Gemelli, Chiara, Geroldi, Alessandro, Massucco, Sara, Trevisan, Lucia, Callegari, Ilaria, Marinelli, Lucio, Ursino, Giulia, Hamedani, Mehrnaz, Mennella, Giulia, Stara, Silvia, Maggi, Giovanni, Mori, Laura, Schenone, Cristina, Gotta, Fabio, Patrone, Serena, Mammi, Alessia, Origone, Paola, Prada, Valeria, Nobbio, Lucilla, Mandich, Paola, Schenone, Angelo, Bellone, Emilia, Grandis, Marina
Publicado 2022

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

por Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E., Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M., Battini, Roberta
Publicado 2022

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

por Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D., Dunn, Teresa M., Bönnemann, Carsten G., Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria
Publicado 2022

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

por Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D’Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano
Publicado 2023

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

por Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S, Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L, Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, Padiath, Quasar Saleem
Publicado 2013

RFC1 expansions are a common cause of idiopathic sensory neuropathy

por Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea
Publicado 2021